Hydrocephalus, and Bronchiectasis

Diseases related with Hydrocephalus and Bronchiectasis

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Bronchiectasis that can help you solving undiagnosed cases.

Top matches:

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

PRIMARY CILIARY DYSKINESIA Is also known as ics|polynesian bronchiectasis|ciliary dyskinesia, primary, 1, with or without situs inversus|pcd|immotile cilia syndrome

Related symptoms:

  • Hearing impairment
  • Ventriculomegaly
  • Respiratory distress
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

High match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Other less relevant matches:

Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term).

LIGNEOUS CONJUNCTIVITIS Is also known as conjunctivitis lignosa

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Macrocephaly
  • Hydrocephalus
  • Blindness


SOURCES: ORPHANET MENDELIAN

More info about LIGNEOUS CONJUNCTIVITIS

Low match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

PFEIFFER SYNDROME Is also known as acrocephalosyndactyly, type v|noack syndrome|acs5|acs v

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about PFEIFFER SYNDROME

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.

HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hyperreflexia
  • Macrocephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASMINOGENEMIA

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

CAMPOMELIC DYSPLASIA Is also known as campomelic dwarfism|cmpd1|cmpd|cmd1|cmpd1/sra1

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAMPOMELIC DYSPLASIA

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Top 5 symptoms//phenotypes associated to Hydrocephalus and Bronchiectasis

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Bronchiectasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Conductive hearing impairment Intellectual disability Respiratory distress Otitis media Recurrent otitis media Pneumonia Micrognathia Low-set ears Abnormality of the larynx Ptosis Recurrent pharyngitis Short stature Failure to thrive Anteverted nares Anemia Proptosis Hepatomegaly Short nose Blindness Cerebellar hypoplasia High forehead Papule Epiphora Flat face Nephrolithiasis Hyperreflexia Brachydactyly Gingival overgrowth Apnea Severe short stature Sinusitis Ventriculomegaly Abnormal heart morphology Short neck Splenomegaly Recurrent pneumonia Communicating hydrocephalus

Rare Symptoms - Less than 30% cases

Hyperpigmentation of the skin Osteolysis Dandy-Walker malformation Dyspnea Hepatosplenomegaly Abnormal cardiac septum morphology Cardiomyopathy Retinopathy Tracheomalacia Lymphadenopathy Downslanted palpebral fissures Hypertrichosis Elevated erythrocyte sedimentation rate Pierre-Robin sequence Recurrent fractures Elbow flexion contracture Sleep apnea Generalized lymphadenopathy Skin nodule Epidermal acanthosis Tracheobronchomalacia Postural instability Full cheeks Syndactyly Conjunctivitis Kyphosis Wide anterior fontanel Short palpebral fissure Scarring Narrow chest Blepharophimosis Polyhydramnios Abnormality of cardiovascular system morphology Cleft palate Visual impairment Muscular hypotonia Hoarse voice Asthma Hypoplasia of the corpus callosum Bronchomalacia Tracheal stenosis Shallow orbits Dilatation Congestive heart failure Seizures Abnormality of vision Poor wound healing Recurrent upper respiratory tract infections Nephritis Premature loss of teeth Gingivitis Periodontitis Recurrent bronchitis Stomatitis Keratoconjunctivitis Vaginitis Scoliosis Duodenal ulcer Gastrointestinal inflammation Abnormality of the gallbladder Abnormality of the mediastinum Abnormality of fontanelles Chronic irritative conjunctivitis Cervicitis Hypothyroidism Increased antibody level in blood High palate Neonatal respiratory distress Edema Atrial septal defect Ventricular septal defect Respiratory tract infection Fever Cough Flexion contracture Growth delay Abnormal lung morphology Chronic otitis media Bronchitis Hernia Macroglossia Neurodegeneration Malabsorption Umbilical hernia Hypospadias Diarrhea Epicanthus Cryptorchidism Abnormal facial shape Chronic rhinitis Chronic bronchitis Rod-cone dystrophy Nasal obstruction Alopecia Recurrent infections Patent ductus arteriosus Headache Clinodactyly Recurrent respiratory infections Ambiguous genitalia Webbed neck Pulmonary hypoplasia Talipes Dysostosis multiplex Hip dislocation Toe syndactyly Hydronephrosis Finger syndactyly Skeletal dysplasia Kyphoscoliosis Myelopathy Intestinal pseudo-obstruction Long philtrum Retinal fold Respiratory insufficiency Wide nose Talipes equinovarus Obstructive sleep apnea Broad hallux Broad forehead Short chin Pterygium Abnormal heart valve morphology Relative macrocephaly Abnormality of the dentition Laryngomalacia Short long bone Disproportionate short-limb short stature Multicystic kidney dysplasia Craniosynostosis Scaphocephaly Midface retrusion Polydactyly Bowing of the long bones Depressed nasal ridge Papilledema Mandibular prognathia Hypoplasia of the maxilla Abnormality of the skeletal system Pneumomediastinum Heparan sulfate excretion in urine Cloverleaf skull Elbow ankylosis Brachyturricephaly Craniofacial dysostosis Long hallux Broad thumb Humeroradial synostosis Anterior plagiocephaly Oxycephaly Dental crowding Shortening of all middle phalanges of the fingers Short thumb Acanthosis nigricans Choanal stenosis Coronal craniosynostosis Arnold-Chiari malformation Atresia of the external auditory canal Ankylosis Natal tooth Broad phalanx Bicoronal synostosis Preaxial polydactyly Abnormality of the ear Decreased level of plasminogen Urinary glycosaminoglycan excretion Geographic tongue Reduced factor XII activity Abnormality of the fallopian tube Abnormality of the middle ear Abnormality of the ovary Abnormality of the respiratory system Venous thrombosis Short middle phalanx of toe Convex nasal ridge Abnormality of the skin Bowing of the legs Abnormality of the eye Visual loss Abnormality of metabolism/homeostasis Retinoschisis Cartilaginous trachea Choanal atresia Cervical cord compression Entropion Bilateral talipes equinovarus Retrognathia Downturned corners of mouth Hirsutism Short palm Thin vermilion border Pulmonic stenosis Postnatal growth retardation Abnormality of the pinna Pes cavus Telecanthus Respiratory failure Abdominal distention Osteopenia Agenesis of corpus callosum Vomiting Dysphagia Intrauterine growth retardation Delayed speech and language development Coarse facial features Microcephaly Shortening of all phalanges of the toes Inguinal hernia Intestinal malrotation Anterior tibial bowing Proximal placement of thumb Redundant neck skin Extramedullary hematopoiesis Cleft soft palate Double outlet right ventricle Anteriorly placed anus Anotia Laryngeal hypoplasia Hypoplastic left heart Bilateral cryptorchidism Abnormality of the genitourinary system Oligohydramnios Cognitive impairment Microretrognathia Sparse eyelashes Narrow palpebral fissure Large fontanelles Pachygyria Abnormality of the genital system Cerebellar vermis hypoplasia Small nail Poorly ossified cervical vertebrae Shortening of all phalanges of fingers Thoracic hypoplasia Abnormality of retinal pigmentation Thin ribs Cystic hygroma Pigmentary retinopathy Spastic tetraplegia Intellectual disability, profound Thick lower lip vermilion Tetraparesis Progressive neurologic deterioration Split hand Exercise intolerance Fibular hypoplasia Tibial bowing Intellectual disability, progressive Endocardial fibroelastosis Aortic regurgitation Widely spaced teeth Corneal dystrophy Incoordination Mild short stature Femoral bowing Gonadal dysgenesis Tetraplegia Hypoplastic inferior ilia Abnormality of the sense of smell Absent sternal ossification Small abnormally formed scapulae Hypoplastic cervical vertebrae Hypoplasia of olfactory tract Attention deficit hyperactivity disorder Laryngotracheomalacia Corneal opacity Dolichocephaly Abnormal external genitalia Neonatal short-limb short stature Glossoptosis Narrow iliac wings Skin dimples Small face 11 pairs of ribs Abnormality of the cerebral white matter Sex reversal Hypoplastic scapulae Hypoplastic iliac wing Delayed eruption of teeth Male pseudohermaphroditism Spastic tetraparesis Pulmonary fibrosis Strabismus Epistaxis Plagiocephaly Type I diabetes mellitus Hypergonadotropic hypogonadism Aspiration Gynecomastia Telangiectasia Primary amenorrhea Hypertriglyceridemia Blue sclerae Cardiomegaly Lipodystrophy Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Amenorrhea Decreased testicular size Wide intermamillary distance Growth hormone deficiency Polyneuropathy Cleft upper lip Ichthyosis Azoospermia Psoriasiform dermatitis Delayed puberty Abnormal eyebrow morphology Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Reticulocytopenia Histiocytosis Decreased serum testosterone level Varicose veins Aspiration pneumonia Enlarged kidney Stridor Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Hallux valgus Leukocytosis Hyperglycemia Abnormality of the foot Hypotrichosis Facial telangiectasia Duodenal atresia Sepsis Immunodeficiency Malar flattening Abnormal respiratory motile cilium morphology Crackles Absent frontal sinuses Immotile cilia Nasal polyposis Abnormal cornea morphology Abdominal situs inversus Asplenia Lymphopenia Polysplenia Chronic sinusitis Recurrent sinusitis Male infertility Ciliary dyskinesia Dextrocardia Anosmia Situs inversus totalis Dyskinesia Infertility Decreased antibody level in blood Malnutrition Pectus carinatum Intellectual disability, mild Abnormality of the kidney Camptodactyly Low-set, posteriorly rotated ears Pes planus Micropenis Hyperkeratosis Diabetes mellitus Hypogonadism Posteriorly rotated ears Delayed skeletal maturation Frontal bossing Combined immunodeficiency Wide nasal bridge Sensorineural hearing impairment Impaired T cell function Abnormality of neutrophils Decrease in T cell count Abnormality of chromosome stability Cellular immunodeficiency Agammaglobulinemia Shawl scrotum Protruding tongue Myelofibrosis Panniculitis Abnormal trabecular meshwork morphology Immune dysregulation Erythema nodosum Abnormality of the cerebrospinal fluid Cystoid macular edema Chylothorax Vitreous hemorrhage Abnormality of the pleura Pneumothorax Anterior synechiae of the anterior chamber Night sweats Bone cyst Macular edema Abnormality of the lymph nodes Upper airway obstruction Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Hypothermia Increased CSF protein Heart block Joint swelling Uveitis Optic neuropathy Hemoptysis Skin plaque Abnormality of the adrenal glands Hyperuricemia Abnormality of T cell physiology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Abnormality of the nasal mucosa Increased T cell count Abnormal cardiac ventricular function Parotitis Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Enlargement of parotid gland Chorioretinitis Posterior vitreous detachment Abnormality of skin morphology Abnormal reproductive system morphology Vitritis Vitreous floaters Abnormal conjunctiva morphology Iridocyclitis Abnormal salivary gland morphology Anterior uveitis Dacryocystitis Keratoconjunctivitis sicca Hyperthyroidism Episcleritis Skeletal muscle atrophy Facial palsy Arthritis Proximal muscle weakness Photophobia Weight loss Glaucoma Arrhythmia Thrombocytopenia Renal insufficiency Fatigue Peripheral neuropathy Hepatic failure Cataract Pain Hypercoagulability Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Erythema Hemolytic anemia Abnormality of the musculature Eosinophilia Interstitial pulmonary abnormality Chorioretinal atrophy Blurred vision Emphysema Diabetes insipidus Inflammation of the large intestine Pleural effusion Portal hypertension Hypercalcemia Hypercalciuria Ventricular tachycardia Hypopigmentation of the skin Leukopenia Nephrocalcinosis Decreased liver function Anorexia Subcutaneous nodule Palpitations Pancytopenia Syncope Sudden cardiac death Chest pain Dermatan sulfate excretion in urine


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